The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

por Popp, Bernt, Bienvenu, Thierry, Giurgea, Irina, Metreau, Julia, Kraus, Cornelia, Reis, André, Fischer, Jan, Bralo, María Palomares, Tenorio‐Castaño, Jair, Lapunzina, Pablo, Almoguera, Berta, Lopez‐Grondona, Fermina, Sticht, Heinrich, Zweier, Christiane
Publicado 2022

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations...

por Sanchez-Jimeno, Carolina, Blanco-Kelly, Fiona, López-Grondona, Fermina, Losada-Del Pozo, Rebeca, Moreno, Beatriz, Rodrigo-Moreno, María, Martinez-Cayuelas, Elena, Riveiro-Alvarez, Rosa, Fenollar-Cortés, María, Ayuso, Carmen, Rodríguez de Alba, Marta, Lorda-Sanchez, Isabel, Almoguera, Berta
Publicado 2021

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review

por Tenorio-Castaño, Jair, Morte, Beatriz, Nevado, Julián, Martinez-Glez, Víctor, Santos-Simarro, Fernando, García-Miñaúr, Sixto, Palomares-Bralo, María, Pacio-Míguez, Marta, Gómez, Beatriz, Arias, Pedro, Alcochea, Alba, Carrión, Juan, Arias, Patricia, Almoguera, Berta, López-Grondona, Fermina, Lorda-Sanchez, Isabel, Galán-Gómez, Enrique, Valenzuela, Irene, Méndez Perez, María Pilar, Cuscó, Ivón, Barros, Francisco, Pié, Juan, Ramos, Sergio, Ramos, Feliciano J., Kuechler, Alma, Tizzano, Eduardo, Ayuso, Carmen, Kaiser, Frank J., Pérez-Jurado, Luis A., Carracedo, Ángel, Lapunzina, Pablo
Publicado 2021